Spanish Patients Research Articles

A 14-year review (2007-2020) of helminthiasis epidemiology in a hospital in Southern Madrid, Spain.

Vast majority of helminth diseases remain neglected tropical diseases (NTDs), causing significant morbidity. The widespread and periodic distribution of antiparasitic drugs, remains the cornerstone for controlling these diseases. In Spain, most helminthiasis cases are imported, and suspicion and diagnosis have become increasingly important. Our primary objective is to present the epidemiological landscape of helminthiasis diagnoses within our facility, while also detailing the demographic characteristics of the affected population. A retrospective study was conducted at the Hospital Universitario Severo Ochoa (HUSO) from January 1, 2007, to December 31, 2020, encompassing all diagnosed cases of helminthiasis during this period. Comprehensive epidemiological, clinical, and microbiological data were gathered for all diagnosed patients. The study population comprised patients receiving treatment at the HUSO, as well as those receiving treatment at the Leganés and Fuenlabrada Primary Care Units. Subsequently, descriptive and comparative statistics were performed, comparing Spanish and foreign patients. During this period, a total of 952 patients were diagnosed with some form of helminthiasis. Among them, 495 were Spanish, and 457 were foreign. The total number of helminths identified, including patients with multiple infections, was 1,010. Significant differences were observed between Africans and Americans in terms of age distribution, with a higher prevalence among Africans in the 0-15 age range and among Americans in the 31-60 age range. Variations were noted in the distribution of helminths, with S. stercoralis significantly affecting Americans. For Spanish patients, the presence of Trichuris trichiura and S. stercoralis was significantly associated with eosinophilia, whereas among foreign patients, it was associated with Trichuris trichiura, Ascaris lumbricoides among others. Regarding symptoms, skin manifestations were more frequent among Spanish, while digestive were more common among foreigners. This study offers crucial epidemiological insights into helminth infections observed over time in a Madrid hospital. Although the prevalence of helminth infections has been decreasing, there is still a need for screening and diagnosing foreign patients.

Nutritional, Clinical and Sociodemographic Profiles of Spanish Patients with Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is a chronic and progressive neurodegenerative disease that leads to the loss of motor neurons. The dietary intake of ALS patients is thought to influence the prognosis and progression of the disease. The aim of this study was to examine the nutritional, clinical and sociodemographic characteristics of ALS patients in Spain. A cross-sectional descriptive study with demographics, clinical anamnesis and anthropometric assessment was carried out. Nutritional intake was recorded and compared with dietary reference intakes (DRI). Forty subjects (25 males; 15 females) aged 54.7 ± 10.17 were included in the study. The mean weight and height were 67.99 ± 8.85 kg and 167.83 ± 8.79 cm, respectively. Clinical phenotype, time to diagnosis, year of onset and family history were not associated with the place of origin. Clinical phenotype had no influence on time of diagnosis. Caloric and protein intakes were adequate, while carbohydrate, vitamin B8 and iodine intakes were significantly lower than the DRI. Lipids; vitamins B1, B2, B3, B5, B6, B12, C and E; sodium; phosphorus; and selenium intakes were significantly higher than the recommended nutritional standards. ALS patients, who are homogeneously distributed throughout our national territory, should modify their dietary habits to minimize ultra-processed products and prioritize foods rich in healthy fats and fiber.

P516 Subcutaneous infliximab cut-off points in a large cohort of Spanish patients with inflammatory bowel disease and factors associated with long-term outcomes

Abstract Background Evidence suggests that subcutaneous formulation of biosimilar infliximab (CT-P13) (SC-IFX) is capable to maintain clinical remission safely and to increase drug levels with a good acceptance in patients with Crohn’s disease (CD) and ulcerative colitis (UC) patients. The aims of this study were to evaluate which are the adequate drug concentration thresholds to maintain remission, and the factors involved in the long-term outcomes. Methods Multicentre, descriptive, and observational study including CD and UC patients who were going to be switched from IV-IFX to SC-IFX on the ENEIDA registry (a large, prospectively maintained database of the Spanish Working Group in IBD–GETECCU). All patients were on clinical remission at least 24 weeks before changing. Clinical activity, C reactive protein (CRP) and fecal calprotectin (FC), as well as trough levels were collected at baseline, at 12, 24 and 56 weeks. Results Two hundred and twenty patients were included 74 UC (34%) and 146 (66%) CD. IV-IFX was mainly administered due to active disease (73%) and perianal disease (12%) and for 52.5 months [range 25-89]. Pre-switch, 106 (49%) were with intensified IV-IFX dose and 97 (44%) were on concomitant immunomodulatory therapy (IMM). Many patients (172, 78%) remained with standard dose. While that SC-IFX levels significantly increased following the switch from IV to SC-IFX, clinical indices, CRP levels and FC remained unchanged during the 52 weeks of follow-up (figure). SC-IFX levels were significantly higher between patients receiving the standard IV-IFX dose than those receiving the intensified IV-IFX dose, but CRP and CF were significantly lower at all observed points. IMM at baseline and perianal disease had no effect on IFX trough levels. However, the higher body mass index was associated with a decrease in IFX trough levels. Low levels before switching and high levels at week 24 were associated with better outcomes. SC-IFX levels of 16.6 μg/dl (11.4-21.6) at week 12 were significantly associated with deep remission (CRP<5 mg/L and FC <250 μg/g) (p=0.017). The suggested optimal SC-IFX cut-off concentration in all patients and in both UC and CD is shown in the table. During 1 year of follow-up, 29 (13%) patients discontinued IMM, 19 (8.6%) had adverse events, 5 (2.3%) were hospitalised, 12 (23.2%) required surgery and 14 (6%) withdrawn SC-IFX. Global drug persistence was high (92% at week 52), but outcomes were worse in CD than in UC. Conclusion Switching from IV IFX to SC IFX has been shown to safely maintain long-term remission in patients with CD and UC. Our cut-off point for deep remission was 12.22 μg/g at week 12 and 13.23 μg/g at week 56.

Assessing the Readability of Online English and Spanish Language Patient Education Resources Provided by the American Society of Plastic Surgeons, American Society of Aesthetic Plastic Surgeons, and American Society of Reconstructive Microsurgeons.

The National Institutes of Health recommends that patient education materials (PEMs) be written at the sixth grade level. However, PEMs online are still generally difficult to read. The usefulness of online PEMs depends on their comprehensibility. This study assessed the readability of PEMs from national Plastic and Reconstructive Surgery (PRS) organization websites. Patient education materials were collected from 3 prominent PRS organizations-the American Society of Plastic Surgeons (ASPS), American Society of Aesthetic Plastic Surgeons (ASAPS), and the American Society of Reconstructive Microsurgeons (ASRM). ASPS PEMs were organized into reconstructive and cosmetic groups, and then further subdivided into English and Spanish subgroups. ASAPS and ASRM PEMs provided cosmetic and reconstructive comparison groups to ASPS, respectively. Readability scores were generated using the Simple Measure of Gobbledygook (SMOG) and the Spanish SMOG scales. Overall, all PEMs failed to meet readability guidelines. Within ASPS, Spanish PEMs were easier to read than English PEMs ( P < 0.001), and cosmetic PEMs were easier to read than reconstructive PEMs ( P < 0.05). There was no significant difference between ASPS cosmetic and ASAPS PEMs ( P = 0.36), nor between ASPS reconstructive and ASRM PEMs ( P = 0.65). ASAPS and ASRM did not have any Spanish PEMs, and 92% of all ASPS PEMs were in English. Although PRS societies strive to better educate the public on the scope of PRS, PRS ranks lowly in public understanding of its role in patient care. In addition, Spanish language PEMs from the 3 PRS organizations are severely lacking. Addressing these concerns will make online patient resources more equitable for various patient populations.

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.

The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation. This prospective, non-interventional study will be carried out at five centres in Spain and will include patients aged 16years or older with a confirmed diagnosis of 5q SMA (biallelic mutation of the survival motor neuron 1 [SMN1] gene). A panel of experts made up of neurologists, physiatrists and Spanish patients' association (FundAME), participated in the design of the clinical tool. Physicians will administer the tool at three time points (baseline, 12months and 24months). Additionally, data from other questionnaires and scales will be collected. Once recruitment is achieved, an interim statistical analysis will be performed to assess its psychometric properties by applying Rasch analysis and classical statistical tests. The tool will consist of up to 53 items to assess functional status from a clinical perspective in seven key dimensions (bulbar, respiratory, axial, lower, upper, fatigability and other symptoms), which will be collected together with objective clinical measures (body mass index, forced vital capacity, pinch strength and 6-minute walk test). The validation of this tool will facilitate the clinical evaluation of adult and adolescent patients with SMA and the quantification of their response to new treatments in both clinical practice and research.

Differences in molecular sensitization profiles between a Spanish and Latin American mite allergic patients.

To analyze the sensitization pattern to Dermatophagoides pteronyssinus and to associate the diagnostic findings and clinical severity in 218 allergic patients from two different continents. Mite allergic patients were recruited by the Allergology departments from Latin America (n=88: Colombia, Costa Rica and Guatemala) and Spain (N=130). All patients had allergic rhinitis with or without asthma and positive skin prick test results to D. pteronyssinus. Specific IgE levels to D. pteronyssinus, D. farinae, Der p 1, Der p 2, and Der p 23 were quantified by ImmunoCAP system (ThermoFisher Scientific). Allergenic profile was also determined by western blot. Comparative Statistical analysis was performed by GraphPad software. Patients recognized most frequently Der p 2 (79%) followed by Der p 1 (73%), and Der p 23 (69%) allergens. The percentage of asthmatic patients increases with the number of sensitizations however none statistically significant differences were found. Interestingly, asthmatic patients presented the highest median levels of total IgE and specific IgE levels of D. pteronyssinus and molecular allergens, mainly Der p 2. Analysing the two different populations, Spanish patients were predominantly sensitized to Der p 2 (88.46%) and Der p 1 (83.84%), whereas Latin American population were more sensitized to Der p 23. Our data support the relevance of Der p 2 in mite allergy as the major allergen, with the high number of patients sensitized to it and its importance in the development of asthma. Sensitization to Der p 23 was more important in Latin America.

Diferencias en la elección de la modalidad de diálisis entre inmigrantes y españoles en Barcelona

Few studies have analyzed the freedom to choose their renal replacement treatment (RRT) modality in Spain. In a total of 673 patients with ACKD (stage 4 and 5) seen at the outpatient ACKD clinic of Hospital del Mar, Barcelona, Catalonia (Spain) from 2009 to 2020, we retrospectively compared immigrant and Spanish patients in order to analyze the impact of migration on RRT decision-making and its subsequent evolution in advanced CKD (ACKD) consultation and identifies the social and economic needs of this population. One hundred thirteen (16.8%) patients were immigrants and 560 were Spanish (83.2%). Migrants more frequently chose HD at a center (79.5%) than PD (12.5%) compared to Spaniards (HD 55.5% and 25% PD) despite being younger and more independent in basic and instrumental activities of daily living. Immigrant patients started RRT with lower eGFR (8.1 vs. 9.1mL/min/1.73m3) and after a shorter follow-up time in the ACKD consultation than the Spaniards (22 vs. 32 months). The language barrier was associated with a greater choice of center-based HD and active employment status favored the choice of PD. Spanish patients had a significantly higher relative risk of mortality compared with immigrant patients (HR=3.27 [95% CI: 1.17–9.17], p=0.024). However, after adjustment by age, this increased relative risk of mortality disappeared (HR 1.99 [0.69–5.76], p=0.206). Almost 60% individuals were not linked to social services. In conclusion, most immigrants in Barcelona choose center-HD versus DP despite being younger and more independent in basic and instrumental activities of daily living and being in a better condition than Spanish patients. Considering the socioeconomic and cultural needs of the immigrant population we serve is necessary to effectively reduce health inequities.

The characterization of a new murine model of central areolar choroidal dystrophy showed that both cones and rods were affected by R195L mutation in peripherin‐2

Aims/Purpose: Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that leads to progressive retinal and choriocapillaris degeneration and vision loss. In Spain, there is a family suffering this disease, since they carry the mutation p.Arg195Leu in PRPH2. Our team have generated a mouse model of CACD carrying the same mutation as the Spanish patients. Our aim was to characterize the progression of CACD in the retina structurally and morphologically in this new murine model.Methods: We studied the model C57BL/6J‐Prph2em1Sal by electroretinography, optomotor test, optical coherence tomography (OCT), immunofluorescence, confocal microscopy, and transmission electron microscopy (TEM) to assess the structural and morphological alteration of the retina during the progression of the disease in Prph2WT/WT, Prph2WT/KI, and Prph2KI/KI mice.Results: A progressive retinal degeneration was found affecting the retina of both Prph2WT/KI and Prph2KI/KI mice models. We observed a significantly decreased retinal function from 3 months of age in Prph2KI/KI and 6 months of age in Prph2WT/KI, that was correlated with a progressive degeneration of the outer nuclear layer (ONL) shown by OCT images. The Prph2KI/KI mice showed a degeneration of photoreceptors with a reduction in the ONL thickness from 3 months of age, and a severe decrease in the number of photoreceptor rows at 6 months of age. The Prph2WT/KI, however, showed a slower decrease in the ONL thickness, starting from 6 months of age. Additionally, we found unstructured and shortened photoreceptor outer segments as evidenced by immunofluorescence against peripherin, rhodopsin and cone‐arrestin. Moreover, TEM images confirmed an abnormal stacking of photoreceptor discs.Conclusions: The generated model is useful for the study of CACD. Moreover, the p.Arg195Leu mutation in PRPH2 causes the alteration of the outer segments first, triggering the degeneration of both cones and rods.

Study protocol for a three-arm randomized controlled trial investigating the effectiveness, cost-utility, and physiological effects of a fully self-guided digital Acceptance and Commitment Therapy for Spanish patients with fibromyalgia.

Fibromyalgia (FM) is a prevalent pain syndrome with significant healthcare and societal costs. The aim of the SMART-FM-SP study is to determine the effectiveness, cost-utility, and physiological effects in patients with FM of a digital intervention (STANZA®) currently marketed in the United States, which delivers smartphone-based, fully self-guided Acceptance and Commitment Therapy (Digital ACT) for treating FM-related symptoms. A single-site, parallel-group, superiority, randomized controlled trial (RCT) will be conducted, including a total of 360 adults diagnosed with FM. Individuals will be randomly allocated (1:1:1) to treatment as usual (TAU), to TAU plus 12 weeks of treatment with Digital ACT, or to TAU plus 12 weeks of treatment with digital symptom tracking (i.e. FibroST). Participants will be assessed at baseline, post-treatment, and 6-month follow-up. An intention-to-treat analysis using linear mixed models will be computed to analyze the effects of Digital ACT on functional impairment (primary outcome), as measured by the Fibromyalgia Impact Questionnaire Revised at 6 months from the inception of the treatment. Secondary outcomes include impression of change, symptoms of distress, pain catastrophising, quality of life, cost-utility, and selected biomarkers (cortisol and cortisone, immune-inflammatory markers, and FKBP5 gene polymorphisms). The role of ACT-related processes of change will be tested with path analyses. This study is the first RCT that tests Digital ACT for Spanish patients with FM. Results will be important not only for patients and clinicians, but also for policy makers by examining the cost-utility of the app in a public healthcare context.

Genetic background of congenital aniridia

Congenital aniridia is a complex disease, characterized mainly by iris and foveal hypoplasia, but patients show great clinical variability with overlapping of different anterior and posterior segment anomalies. More than 90% of patients carry heterozygous variants in the PAX6 gene, a highly conserved transcriptional regulator that plays a key role in normal ocular development. Loss‐of‐function variants causing premature stop codons are the most frequent within the broad mutational spectrum of PAX6, with more than 750 different mutations identified to date. 11p13 microdeletions altering PAX6 or its downstream regulatory region have been found in ~25% of patients. Iris abnormalities are also present in various aniridia‐mimicking conditions, such as FOXC1 and PITX2‐related anterior segment dysgenesis, among other minor genes. Therefore, this is now recognized that genetic and clinical diagnosis of patients with suspected aniridia is challenging. Genetic testing has proven to be crucial for differential diagnosis. Here, we update best practices to improve genetic testing and clinical management of aniridia using more cost‐effective next‐generation sequencing analysis.Recent advances in genomic sequencing contributed to increasing diagnostic yield in congenital aniridia and allied conditions, from 70 to 95% as we demonstrated in a cohort of Spanish patients, and also in a “naïve” cohort of Hungarian patients without previous genetic testing. NGS allowed us to identify pathogenic PAX6 variants in patients with an atypical or incomplete presentation of aniridia, such as isolated foveal or optic nerve hypoplasia. In addition, genomic approaches contributed to elucidating new molecular mechanisms underlying the etiopathogenesis of congenital aniridia involving non‐coding PAX6 variants and revealed an unexpected role of mosaic variants in the intrafamilial variable expressivity of aniridia.Emerging long‐read sequencing techniques may provide insight into hidden sources of variation at PAX6 locus in some patients with unexplained genetic causes of aniridia. Nanopore‐based long‐read whole genome sequencing unveiled cryptic balanced chromosomal structural variants that directly disrupt PAX6 or its regulatory elements.In conclusion, NGS‐based genetic testing is crucial to ensure a correct and timely clinical diagnosis, and provide better prognosis and management of patients with aniridia or aniridia‐like, besides the further benefits to families by allowing prenatal and preimplantation genetic testing. Genetic findings would also be critical in defining eligible patients for future clinical trials.

Glaucoma pharmacogenetics. Role in neuroprotection

Glaucoma is a blinding disease that can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult‐onset forms of disease. Genetic and genomic studies, including genome‐wide association studies (GWAS) have identified new genetic variants contributing to glaucoma in the last years. Genes correlating with glaucoma risk may involve: ocular development, intraocular pressure, trabecular meshwork function or some of them are directly related to optic nerve susceptibility such as retinal ganglion cell membranes, mitochondrial function, reactive oxygen species production and management, and mechanisms controlling apoptosis. These findings are providing new insights into the underlying molecular mechanisms responsible for glaucoma that could eventually lead to novel gene‐based therapies, including strategies for neuroprotection.We present our study about the genetic analysis of a cohort of Spanish patients with primary open‐angle glaucoma to determine the contribution of rare variants associated with this disease through next generation sequencing (NGS) glaucoma gene panel, as a future method of diagnosis and early treatment. We found some rare variants associated with optic disk parameters and function in some families with high and normal tension glaucoma with allelic frequencies significantly higher than the frequency in the general population by NGS. Those rare variants are located in SIX6, CARD10, MFN1, OPTN, and WDR36 glaucoma‐related genes.These risk variants have been associated to the alteration of retinal ganglion cells through different mechanisms, thereby increasing the risk of glaucoma‐associated vision loss.The discovery of new genetic variants associated with augmented susceptibility of the optic nerve may in the future open the door to designing new neuroprotection gene therapies aimed at repairing damaged genes or providing them through different vectors.

Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.

Meniere disease (MD) is a debilitating disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. Severe tinnitus, which occurs in around 1% of patients, is a multiallelic disorder associated with a burden of rare missense single nucleotide variants in synaptic genes. Rare structural variants (SVs) may also contribute to MD and severe tinnitus. In this study, we analyzed exome sequencing data from 310 MD Spanish patients and selected 75 patients with severe tinnitus based on a Tinnitus Handicap Inventory (THI) score > 68. Three rare deletions were identified in two unrelated individuals overlapping the ERBB3 gene in the positions: NC_000012.12:g.56100028_56100172del, NC_000012.12:g.56100243_56101058del, and NC_000012.12:g.56101359_56101526del. Moreover, an ultra-rare large duplication was found covering the AP4M1, COPS6, MCM7, TAF6, MIR106B, MIR25, and MIR93 genes in another two patients in the NC_000007.14:g.100089053_100112257dup region. All the coding genes exhibited expression in brain and inner ear tissues. These results confirm the contribution of large SVs to severe tinnitus in MD and pinpoint new candidate genes to get a better molecular understanding of the disease.

Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project

BackgroundThe availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the best personalized therapy for their patients.AimsTo determine whether treatment with eliglustat produces, in adult GD1 patients, ans optimal response in daily clinical practice.MethodsWe designed a real-life study with 2 years of follow-up (TRAZELGA [GEE-ELI-2017-01]) to uniformly evaluate the response and adverse events to eliglustat treatment. This study, conducted in 30 patients across Spain and previously treated with other therapies, included the evaluation of safety and efficacy by assessing visceral enlargement, bone disease (DEXA and T and Z scores), concomitant treatments and adverse events, as well as a quality of life evaluation (SF-36). In addition, the quantification of classical biomarkers (chitotriosidase activity, CCL18/PARC and glucosylsphingosine (GluSph)) and new candidates for GD biomarkers (YKL-40, cathepsin S, hepcidin and lipocalin-2 determined by immunoassay) were also assessed. Non-parametric statistical analysis was performed and p < 0.05 was considered statistically significant.Main ResultsThirty patients were enrolled in the study. The median age was 41.5 years and the male–female ratio was 1.1:1. 84% of the patients had received ERT and 16% SRT as previous treatment. The most common symptoms at baseline were fatigue (42%) and bone pain (38%), no patient had a bone crisis during the study, and two years after switching, 37% had reduced their use of analgesics. Patient-reported outcomes showed a significant increase in physical function scores (p = 0.027) and physical pain scores (p = 0.010). None of the enrolled patients discontinued treatment due to adverse events, which were mild and transient in nature, mainly gastrointestinal and skin dryness. None of the biomarkers show a significant increase or decompensation after switching. CCL18/PARC (p = 0.0012), YKL-40 (p = 0.00004) and lipocalin-2 (p = 0.0155) improved after two years and GluSph after one year (p = 0.0008) and two years (p = 0.0245) of oral therapy.ConclusionIn summary, this real-life study, showed that eliglustat maintains stability and can improve quality of life with few side effects. Significant reductions in classic and other novel biomarkers were observed after two years of therapy.

Characterization and Outcomes of Spanish Patients With Relapsed/Refractory Multiple Myeloma Included in the LocoMMotion Study

BackgroundDespite advances in treatments for multiple myeloma (MM), most patients relapse and become refractory to standard drug classes including immunomodulatory drugs (IMiDs), proteasome inhibitors (PIs), and anti-CD38 antibodies. The LocoMMotion study showed poor clinical outcomes in triple-class exposed patients with relapsed/refractory MM (RRMM) treated with real-world clinical practice (RWCP) therapy. Here, we report efficacy outcomes for Spanish patients receiving RWCP treatments in the LocoMMotion study compared with the full cohort. Patients and MethodsThe prospective, noninterventional, multinational LocoMMotion study (NCT04035226) enrolled 248 patients who had received ≥ 3 prior lines of therapy (LOT), including a PI, an IMiD, and an anti-CD38 antibody, with disease progression during or after their last LOT. The primary endpoint was overall response rate (ORR). Secondary endpoints included progression-free survival (PFS) and overall survival (OS). ResultsSpanish patients (n = 24) had received a median of 4 prior LOT (range, 2-7). At 29.2 months median follow-up, patients had received 14 different treatment regimens used in RWCP during the study. Efficacy outcomes were consistent between the Spanish cohort and overall study population. The ORR was 29.2% (95% CI, 12.6%-51.1%). Median PFS and OS were 4.6 months (95% CI, 1.2-6.3) and 11.6 months (95% CI, 6.4-24.5), respectively. ConclusionSpanish patients from the LocoMMotion study demonstrated poor outcomes in response to RWCP treatments consistent with those of the overall study population, highlighting the need for access to new and effective therapies for patients with RRMM in Spain and globally.

Health-related quality of life among Spanish patients with diabetic foot ulcer according to Diabetic Foot Ulcer Scale – Short Form

AimThe aim of this study was to investigate the health-related quality of life of Spanish outpatients with diabetic foot ulcer using the Diabetic Foot Scale-Short Form (DFS-SF). Materials and methodsThis cross-sectional observational study included 141 outpatients with diabetic foot ulcers (DFU). The DFS-SF was applied in personal interviews conducted by a trained investigator to assess health-related quality of life (HRQoL). ResultsThe domain related to “worried about ulcers” had the lowest in score [50 (27.5–65.0)], and the highest score was in the physical health domain [76 (60.0–88.0)]. There was a statistically significant difference in the ulcer type and the physical health subscale, finding the lowest values in the physical health subscale in patients with ischaemic diabetic foot ulcers [58 (39.0–70.0), p = 0.007]. In the multivariable analysis the domains Leisure (OR 0.98, 95% CI 0.97–0.99) and worried about ulcers/feet (OR 0.98, 95% CI 0.96–0.99) were identified as significant independent domains in patients with the experience of a previous minor amputation. A significant negative correlation was observed between the SINBAD DFU score and leisure (r = -0.181, p = 0.032), physical health (r = -0.202, p = 0.016), dependence/daily life (r = -0.232, p = 0.006), and the “bothered by ulcer care” (r = -0.239, p = 0.004) domains of the DFS-SF. The ulcer duration had a significant negative correlation with all the domains of DFS-SF. ConclusionThe DFS-SF survey is a specific instrument that could be implemented in diabetic foot units as part of the management of patients with DFU to evaluate HRQoL. The domain of “worried about ulcers” had the lowest score in our population suggesting that clinicians should try to work on the emotional state of patients with DFU. The mean duration of DFU was the most influential factor related to worse scores followed by previous amputations. The SINBAD score had significant negative correlations suggesting that HRQoL may be related to the severity of DFU in this study population.

PSP/DEGESCO: A Progressive Supranuclear Palsy Genome‐Wide Association Study in the Spanish Population

AbstractBackgroundProgressive supranuclear palsy (PSP) is a rare neurodegenerative tauopathy. We genotyped all the available histopatologically confirmed PSP cases from the Spanish National Biobank Network and patients with a probable PSP diagnosis recruited from research groups linked to the Dementia Genetics Spanish Consortium (DEGESCO). Here, we present the results of the genome‐wide association study (GWAS) performed after the first stage of this project.MethodDNA samples were genotyped by the Centro Nacional de Genotipado (Santiago de Compostela, Spain) using the Affymetrix Axiom 815K Spanish biobank array. After quality control, we kept 156 histopathological (discovery) and 197 clinical (validation) PSP samples. Then, we selected 650 and 800 sex‐matched controls from GR@ACE/DEGESCO for stratified genome‐wide association of the discovery and validation sets, respectively (Table 1). We ran PC1‐4 adjusted logistic regressions with plink v2.00 and meta‐analyzed the discovery and validation sets using METAL. Finally, we meta‐analyzed our results with 36 previously reported SNPs1 reaching the largest PSP sample size to date (N = 3053).ResultWe found a strong genome‐wide significant (GWS) signal associated to the MAPT H1/H2 haplotype (rs8070723 G: OR = 3.40; 95%CI = 2.64‐4.39; p = 2.60·10−20, Figure 1) and identified a previously unreported signal in chromosome 7p13 (rs76827509 T: OR = 0.45; 95%CI = 0.35‐0.58; p = 3.09·10−10). We replicated, with nominal significance, 5 GWS SNPs reported in previous GWAS (Table 2) and found significant effects for NFASC and TOMM40. Because APOE and TOMM40 are in strong linkage disequilibrium, we also checked the effect of APOE variants. We found a protective effect (OR = 0.66; 95%CI = 0.48‐0.90; p = 9.75·10−3) of the rs429358 C allele (APOE ε4) in our dataset.ConclusionThe strong GWS signal of the H1 haplotype confirms the validity of our GWAS results2. We were able to replicate several PSP loci (Table 1). The NFASC variant reached borderline GWS significance after meta‐analysis and is a good PSP risk factor candidate. Finally, the APOE ε4 allele was protective for PSP in our cohort. The second stage of PSP/DEGESCO genotyped 218 additional PSP samples. 1 Sanchez‐Contreras, M. Y. et al. Mol. Neurodegener. (2018) 2 Höglinger, G. U. et al. in Nature Genetics (2011)

Metabolic syndrome in systemic lupus erythematosus patients under Mediterranean diet

Background and aimsMetabolic syndrome (MetS) is a chronic proinflammatory and prothrombotic condition that exacerbates insulin resistance, oxidative damage, and cardiovascular risk, being more prevalent in patients with systemic lupus erythematosus (SLE), a chronic multisystemic autoimmune disorder. This study aim was to determine the prevalence of MetS and associations with SLE clinical characteristics, cardiovascular risk and dietary pattern in a population of Spanish SLE patients. Design and methodsCross-sectional study of 293 patients was conducted (90.4% females; mean age 46.8 (12.94)). The diagnosis of MetS was established based on the criteria of the National Cholesterol Education Program Adult Treatment Panel III. SLE Disease Activity Index (SLEDAI-2K) and SDI Damage Index were used to assess disease activity and disease-related damage, respectively. Med Diet adherence was assessed through a 14 items questionnaire on food consumption frequency and habits. ResultsMetS was present in 15% SLE patients. Triglycerides, high-density lipoprotein cholesterol, systolic blood pressure and waist circumference were significantly increased (p<0.001) in the group of MetS patients. Patients with MetS showed significantly increased SDI damage index (1.70 (1.69) vs 0.88 (1.12), p<0.001) and complement C3 level (118.70 (32.67) vs 107.55 (26.82), p=0.011). No significant differences were observed according to Med Diet adherence level. ConclusionWe observed a lower prevalence of MetS in SLE than that reported in previous studies, which may be a result of the good level of adherence to the MedDiet in our study sample. Additionally, MetS was associated with higher SDI and complement C3 levels but no with medication use.

Correlation between Health and eHealth Literacy and a Healthy Lifestyle: A Cross-Sectional Study of Spanish Primary Healthcare Patients.

Health literacy and eHealth literacy play a crucial role in improving a community's ability to take care of themselves, ultimately leading to a reduction in disparities in health. Embracing a healthy way of living is vital in lessening the impact of illnesses and extending one's lifespan. This research delves into the link between the health and eHealth literacy levels of individuals accessing primary healthcare services and investigates how this relates to adopting a health-conscious lifestyle. The approach involves a cross-sectional examination carried out at a healthcare facility in the Madrid region of Spain, focusing on adult patients who are in need of primary care nursing services. Health and eHealth literacy and a healthy lifestyle were measured using the Health Literacy Questionnaire (HLQ), the eHealth Literacy Questionnaire (eHLQ), and the "PA100" questionnaire, respectively. Only some of the dimensions of the HLQ and eHLQ were significantly related to a healthy lifestyle, predominantly with a very low or low relationship. Dimension three of the HLQ and dimension five of the eHLQ acquired more importance and were positioned as positive predictors of a healthy lifestyle. This study helps comprehend the relationship between health and eHealth literacy and a healthy lifestyle, which provides information that contributes to understanding the factors that might have a higher impact on lifestyles.

Abstract 14501: Process Evaluation of a Double Blind Randomized Controlled Trial to Assess the Efficacy and Safety of a Quadruple Ultra-Low-Dose Treatment for Hypertension Within a Federally Qualified Health Center Network (QUARTET USA)

Introduction: This explanatory sequential mixed-methods process evaluation of the QUARTET USA clinical trial (NCT03640312) explores patient and health professional perceptions about the use of low-dose quadruple therapy (LDQT) as a novel strategy for hypertension management. Methods: Sixty-two patients took part in the trial. Survey data were collected from patients to understand their beliefs about blood pressure medications and treatment satisfaction with LDQT. A sub-sample of 13 English and Spanish patients and 11 health professionals, recruited via purposive sampling, took part in semi-structured qualitative interviews. Data collection took place between August 2019 and July 2022. Quantitative data were analyzed using descriptive statistics and cross-tabulations, and the qualitative data were analyzed using thematic analysis. Common themes from the two sets of findings were integrated. Results: 54.3% of patients believed in the necessity of their blood pressure medicines and 40.6% were concerned about the side effects and long-term effects of their medications. At trial completion, 80.4% of the patients were satisfied with the LDQT, 96.4% were certain the benefits of taking LDQT outweighed the disadvantages, and all participants reported that it was convenient to take. Both patients and health professionals found LDQT acceptable because it facilitated patients’ blood pressure control and medication adherence, and reduced patients’ perceived pill burden and adverse reactions. Health professionals stated that a limitation of LDQT was the inability to titrate the dose and that health insurance coverage and inclusion of LDQT in national hypertension guidelines could increase its widespread use. Conclusions: The LDQT strategy was acceptable to patients and health professionals for hypertension treatment. While LDQT therapy generally improved and maintained patients’ blood pressure control, medication adherence, and had a good safety profile, the limitation of its titration inflexibility and medication cost were raised by health professionals. Making LDQT therapy flexible by introducing stepped care combinations and ensuring health insurance coverage could increase its widespread implementation and scale-up.

Abstract 11359: Association Between PROMIS Scores and Heart Failure Severity in Children

Introduction: Patient reported outcome (PRO) measures correlate with heart failure (HF) severity among adults and are widely used as adjunct tools in the assessment of adult HF. However, limited data exist in pediatric HF. PROs may be valuable in monitoring heart failure (HF) status in children. Hypothesis: Patient Reported Outcome Measurement Information System (PROMIS) fatigue score correlates with HF severity in children. Methods: In this prospective cohort study, English and Spanish speaking patients were recruited from 4 pediatric HF centers 09/2019 - 02/2023. Children 8.0 to 18.0 years old with systolic and/or diastolic HF were enrolled while receiving inpatient HF treatment. Pediatric self-report PROMIS measures were administered during inpatient treatment and at additional outpatient follow-up time point(s) within 6 months post-discharge. Measures included mobility, fatigue, anxiety, depressive symptoms, and peer relationships. NYU HF Index scores were calculated at each time point. Pearson’s correlation with a 95% confidence interval (CI) compared PROMIS Fatigue T-score and NYU HF Index score at the inpatient time point, and a linear mixed effects model determined their association over time. Results: We enrolled 41 patients with median age of 13.5 ±4.2 years. Patient diagnoses included cardiomyopathy (48.8%), congenital heart disease (41.5%) and other (9.7%). Twenty patients (48.8%) were discharged from hospital alive and without a VAD or heart transplant, of which 18 completed both inpatient and outpatient follow-up assessment. Median PROMIS Fatigue T-scores and NYU HF Index scores improved from inpatient to outpatient assessment. NYU Index scores improved from 12.0 (IQR 11.2, 15.0) to 7.5 (IQR 5.8,10.2); p&lt;0.05. PROMIS fatigue scores improved from 58.5 (IQR 54.6, 64.9) to 50.2 (IQR 33.5, 59.2); p&lt;0.05. The correlation between PROMIS Fatigue T-score and NYU HF Index score at the inpatient time point was 0.5 (95% CI 0.2, 0.7), and their correlation over time was 0.5 (95% CI 0.3, 0.6). Conclusions: PROMIS Fatigue T-score moderately correlates with HF severity in children. Larger scale application of PROMIS could aid in longitudinal symptom management of pediatric HF patients and should be further tested in routine clinical care.